CDC37L1

Chr 9

cell division cycle 37 like 1, HSP90 cochaperone

Also known as: CDC37B, HARC

NCBI Gene: 55664 ENSG00000106993 UniProt: Q7L3B6

CDC37L1 encodes a co-chaperone that binds to numerous proteins and promotes their interaction with Hsp70 and Hsp90, functioning as part of the cellular protein folding machinery. The gene is highly constrained against loss-of-function variants (pLI=0.97, LOEUF=0.33), but no specific human diseases have been definitively associated with CDC37L1 mutations in the current literature. Further research is needed to establish clear genotype-phenotype correlations for this gene.

ResearchSummary from RefSeq, UniProt

CDC37L1 is a cytoplasmic phosphoprotein that exists in complex with HSP90 (HSPCA; MIM 140571) as well as several other proteins involved in HSP90-mediated protein folding (Scholz et al., 2001 [PubMed 11413142]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.33

LOEUF· LoF intol.

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Mechanism

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